Special Edition. “Letter from the Guest Editor: Bringing Diversity to the Forefront of Child Neurology”

Pediatric neurology was recognized from its early stages as an ever-evolving subspecialty. It was defined more recently than adult neurology, but was always recognized to involve a dynamic brain: “a system that is undergoing progressive and dramatic maturational changes with increasing chronological age” (Gold and Carter, 1976, ¹ as quoted by Williams ² ). By its nature, the conditions we care for as pediatric neurologists are marked by diversity within the human experience.

In medical school, many physician-trainees learn to recognize the “illness scripts” that clue us in to the conditions that brought our patients to the health care system ³ ; however, these illness scripts train us to look at each condition as a set constellation of symptoms, one that we might be able to recognize in a 60-second board question or a rapid emergency department consultation. The diversity of medicine, of our population, and of the presentation of conditions may at times be lost in this approach of learning. The set of articles in this special edition highlight the diversity in various levels of pediatric neurology and its practice.

We can consider diversity on multiple levels: from diversity within the phenotype of a specific condition, to diversity of an individual's demographics (possibly affecting their care), to diversity of experiences by that patient and their family. Within child neurology, diversity of phenotypic presentation is crucial to continue to move our field of diagnostics and treatment (when necessary) forward. Czylok et al ⁴ and Basarir et al ⁵ highlight the diversity of 2 specific rare conditions, ATP1A3 mutations and 15q11.2 microdeletions and duplications, respectively. The findings of such studies can help guide diagnostic decision making, in confirming patterns and debunking misconceptions when looking at the variety of presentations.

Bonezzi et al ⁶ tackle an inherently diverse diagnosis of cerebral palsy, through a cross-sectional study of the comorbidities and unmet needs in rural Algeria. This article adds to the limited research that is available on cerebral palsy within the refugee populations, with a detailed cross-sectional analysis of 29 children with cerebral palsy in Sahrawi refugee camps. The results are striking in identifying the various ways in which the phenotype presents within one diagnosis, as well as the limitations of resources for diagnosis, rehabilitation, pharmacologic treatment, and further mobility aids in the desert.

This diversity in disability presentation has begun to emerge in children's literature as well, as described by Kacsoh et al ⁷ in their image description regarding graphic novels. The theme of varied forms of disability representing an individual's identity has been deeply presented in multiple graphic novels which are reviewed in this piece, and can be referenced for a patient’s benefit.

Because of these differences in presentation types, the “diagnostic odyssey” it often takes to find clarity is not unusual to the majority of experiences by pediatric neurology patients. ⁸ Although this prolonged course of discovery and workup is common, the field is continuously working to shorten and alleviate this journey. Patil et al ⁹ add crucial data to the understanding of the diagnostic odyssey as it relates to genetic causes of epilepsy. They retrospectively studied the genetic testing processes in children with epilepsy, identifying that individuals of Latine ancestry had an overall reduced timeline of genetic testing completion compared with those of White and Black ancestry. When almost one-third of the patients participating received a diagnosis from their genetic testing, this delay among certain ethnic groups could significantly affect care.

Although the diagnostic odyssey and genetic testing journey often occurs near the initial presentation of seizures and in the outpatient setting, Garrett et al's ¹⁰ study indicated that the effect of patient diversity may impact care in acute settings as well. In their evaluation of pediatric patients presenting with status epilepticus to intensive care units across the United States, neighborhood disparities were seen to have a statistically significant impact on the likelihood of invasive mechanical ventilation use in a child's care, and on their proportion of intensive care admissions overall.

Just as there is diversity within a patient's condition and the presentation, there is also diversity in the experiences of that patient's caregivers and family. In Tejo Prasanna and Nayak's ¹¹ topical review, we learn that the narratives of caregivers for autistic individuals* are shaped by socioeconomic factors, cultural norms, and systemic inequities. In order to truly support our caregivers, we must fully understand and address the factors that shape their experiences. In an ever-changing landscape of health care, resources, and educational supports, the experience of the caregivers summarized in this article are highly influenced by their intersectional identities, such as their own educational levels, their capacity of time and financial resources to devote to advocacy, and their own health literacy and access to health care. This discourse brings up an important discussion around stigmatizing narratives of parents, health care discrimination, and cultural expectations.

These findings resonate with the topical review provided by Cerf et al, ¹² on the inclusion of family members with children with severe neurologic impairment. Particularly touched on is the experience of caregiving as a neurodivergent or disabled individual, and the common medical prejudice that disabled individuals experience a worse quality of life. Family-inclusive approaches that challenge these biases are suggested in the review, such as sharing information intentionally and repeatedly among the health care team and the family, providing access to community supports in health care visits, and focusing on family empowerment in the transition from inpatient acute hospitalizations to home and symptom management.

One method of supporting our diverse population of patients and families is through telemedicine. McDonnell et al ¹³ found that a short, one-time educational intervention in Spanish increased telemedicine portal activation in Spanish-speaking populations among their outpatient pediatric epilepsy patients. They noted that attention to diversity did not have to be long or costly to be impactful, and that one-size-fits-all interventions (such as prior instructions sent to all patients in English) may perpetuate barriers among certain populations.

With these findings in diversity through all realms of care—from patient presentation and diagnostic journey, to family background and caregiver characteristics—one must also be intentional in finding and supporting the positive effects of difference on our field. Tejo Prasanna et al ¹¹ spent time reminding us of the positive lens that might result from diversity: the concepts of using cultural capital, working with strong family ties, and leveraging neurodiversity to support caregiving. Shear et al ¹⁴ focused on the concrete principles of providing neurodiversity-affirming care within the clinical setting, with a historical review of the concept of neurodiversity and ableism. The highlighted principles include those of intersectionality, the respect of a patient's autonomy, the presumption of competence, honoring all forms of communication, prioritizing lived experience, and validating difference. It's the differences in the growing human brain that created our field, and it will continue to be the differences in the patient and family experience that expand its scholarship into the future.

Disclaimer

* When discussing neurodiversity and autism, some individuals prefer “identity-first language,” where the title of the diagnosis is inclusive of their identity, and they prefer the use of this title prior to their person: eg, autistic person, or disabled person. On the other hand, other individuals prefer putting the person ahead of the title, such as stating a person with disability or a person with autism. In this letter, I am using identity-first language, as this is the language requested by the majority of my self-advocate partners who are autistic. However, for different audiences this might differ. It is most important to be mindful of the personal preference within the group being researched, and conduct conversations with the goals of the community in mind.